Excluded the 2 individuals in whom switch of DNA samples was discovered before counter-expertise test had been performed (subjects A and B from Figure 1 and Table 2).
#Gold standard test is defined as the overall conclusion after following the steps for mutation analysis in both the reference laboratory and the counter-expertise laboratory.Overall accuracy = 999/1001 = 0.998, 95%. Confidence interval: to to 1.00.Sensitivity = 314/314 = 1.0, 95%. Confidence interval: to .Specificity = 685/687 = 0.997, 95%. Confidence interval: to to 1.00.Likelihood ratio for a positive test = sensitivity/(1 − specificity) = 344, indicating that a positive result is 344 times more likely to occur in someone with the mutation according to the gold standard than in one without it.